-
1
-
-
0028965694
-
Prenatal detection of the cholesterol synthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of the amniotic fluid sterols
-
Abuelo, D.N., Tint, G.S., Batta, A., et al. (1995). Prenatal detection of the cholesterol synthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of the amniotic fluid sterols, Am. J. Med. Genet., 56, 281-285.
-
(1995)
Am. J. Med. Genet.
, vol.56
, pp. 281-285
-
-
Abuelo, D.N.1
Tint, G.S.2
Batta, A.3
-
2
-
-
0031043337
-
Maternal serum marker levels in two pregnancies affected with Smith-Lemli-Opitz syndrome
-
Canick, J.A., Abuelo, D., Bradley, L.A., Tint, G.S. (1997). Maternal serum marker levels in two pregnancies affected with Smith-Lemli-Opitz syndrome, Prenat. Diagn., 17, 187-189.
-
(1997)
Prenat. Diagn.
, vol.17
, pp. 187-189
-
-
Canick, J.A.1
Abuelo, D.2
Bradley, L.A.3
Tint, G.S.4
-
3
-
-
0031050244
-
Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS)
-
Elias, E.R., Irons, M.B., Hurley, A.D., Tint, G.S., Salen, G. (1997). Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS), Am. J. Med. Genet., 68, 305-310.
-
(1997)
Am. J. Med. Genet.
, vol.68
, pp. 305-310
-
-
Elias, E.R.1
Irons, M.B.2
Hurley, A.D.3
Tint, G.S.4
Salen, G.5
-
4
-
-
0029098207
-
Defective conversion of 7-dehydrocholesterol to cholesterol in cultured skin fibroblasts from Smith-Lemli-Opitz syndrome homozygotes
-
Honda, A., Tint, G.S., Salen, G., Batta, A.K., Chen, T.S., Shefer, S. (1995). Defective conversion of 7-dehydrocholesterol to cholesterol in cultured skin fibroblasts from Smith-Lemli-Opitz syndrome homozygotes, J. Lipid. Rsh., 36, 1595-1601.
-
(1995)
J. Lipid. Rsh.
, vol.36
, pp. 1595-1601
-
-
Honda, A.1
Tint, G.S.2
Salen, G.3
Batta, A.K.4
Chen, T.S.5
Shefer, S.6
-
5
-
-
0027270349
-
Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome
-
Irons, M., Elias, E.R., Salen, G., Tint, G.S., Batta, A.K. (1993). Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome, Lancet, 341, 1414.
-
(1993)
Lancet
, vol.341
, pp. 1414
-
-
Irons, M.1
Elias, E.R.2
Salen, G.3
Tint, G.S.4
Batta, A.K.5
-
6
-
-
0028295496
-
Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: Report of clinical and biochemical findings in 4 patients and treatment in 1 patient
-
Irons, M., Elias, E., Tint, G.S., Salen, G., Frieden, R., Buie, T.M., et al. (1994). Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in 4 patients and treatment in 1 patient, Am. J. Med. Genet., 50, 347-352.
-
(1994)
Am. J. Med. Genet.
, vol.50
, pp. 347-352
-
-
Irons, M.1
Elias, E.2
Tint, G.S.3
Salen, G.4
Frieden, R.5
Buie, T.M.6
-
7
-
-
0031051150
-
Treatment of Smith-Lemli-Opitz syndrome: Results of a multicenter trial
-
Irons, M., Elias, E.R., Abuelo, D., Bull, M.J., Greene, C.L., Johnson, V.P., et al. (1997). Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial, Am. J. Med. Genet., 68, 311-314.
-
(1997)
Am. J. Med. Genet.
, vol.68
, pp. 311-314
-
-
Irons, M.1
Elias, E.R.2
Abuelo, D.3
Bull, M.J.4
Greene, C.L.5
Johnson, V.P.6
-
8
-
-
0029022844
-
Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts
-
Kelley, R.I. (1995). Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts, Clin. Chim. Acta., 236, 45-58.
-
(1995)
Clin. Chim. Acta.
, vol.236
, pp. 45-58
-
-
Kelley, R.I.1
-
9
-
-
0031592431
-
Editorial: A new face for an old syndrome
-
Kelley, R.I. (1997). Editorial: a new face for an old syndrome, Am. J. Med. Genet., 68, 251-256.
-
(1997)
Am. J. Med. Genet.
, vol.68
, pp. 251-256
-
-
Kelley, R.I.1
-
10
-
-
0029936714
-
First trimester prenatal diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency)
-
Mills, K., Mandel, H., Montemagno, R., Soothill, P., Gershoni-Baruch, R., Clayton, P.T. (1996). First trimester prenatal diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency), Pediatr. Res., 39, 816-819.
-
(1996)
Pediatr. Res.
, vol.39
, pp. 816-819
-
-
Mills, K.1
Mandel, H.2
Montemagno, R.3
Soothill, P.4
Gershoni-Baruch, R.5
Clayton, P.T.6
-
11
-
-
0030897051
-
First trimester diagnosis of Smith-Lemli-Opitz syndrome
-
Sharp, P., Haan, E., Fletcher, J.M., Khong, T.Y., Carey, W.F. (1997). First trimester diagnosis of Smith-Lemli-Opitz syndrome, Prenat. Diagn., 17, 355-361.
-
(1997)
Prenat. Diagn.
, vol.17
, pp. 355-361
-
-
Sharp, P.1
Haan, E.2
Fletcher, J.M.3
Khong, T.Y.4
Carey, W.F.5
-
12
-
-
0028884255
-
Markedly inhibited 7-dehydrocholesterol-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes
-
Shefer, S., Salen, G., Batta, A.K., Honda, A., Tint, G.S., Irons, M., Elias, E.R., Chen, T.C., Holick, M.F. (1995). Markedly inhibited 7-dehydrocholesterol-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes, J. Clin. Invest., 96, 1779-1785.
-
(1995)
J. Clin. Invest.
, vol.96
, pp. 1779-1785
-
-
Shefer, S.1
Salen, G.2
Batta, A.K.3
Honda, A.4
Tint, G.S.5
Irons, M.6
Elias, E.R.7
Chen, T.C.8
Holick, M.F.9
-
13
-
-
0000139419
-
A newly recognized syndrome of multiple congenital anomalies
-
Smith, D.W., Lemli, L., Opitz, J.M. (1964). A newly recognized syndrome of multiple congenital anomalies, J. Pediatr., 64, 210-217.
-
(1964)
J. Pediatr.
, vol.64
, pp. 210-217
-
-
Smith, D.W.1
Lemli, L.2
Opitz, J.M.3
-
14
-
-
0000727177
-
Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome
-
Tint, G.S., Irons, M., Elias, E., Batta, A.K., Salen, G., Frieden, R., Chen, T.S. (1994). Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome, N. Engl. J. Med., 330, 107-113.
-
(1994)
N. Engl. J. Med.
, vol.330
, pp. 107-113
-
-
Tint, G.S.1
Irons, M.2
Elias, E.3
Batta, A.K.4
Salen, G.5
Frieden, R.6
Chen, T.S.7
-
15
-
-
0031853311
-
Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols
-
in press
-
Tint, G.S., Abuelo, D., Till, M., Cordier, M.P., Batta, A.K., Shefer, S., Honda, A., Honda, M., Xu, G., Irons, M., et al. (1997). Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols, Prenat. Diagn., in press.
-
(1997)
Prenat. Diagn.
-
-
Tint, G.S.1
Abuelo, D.2
Till, M.3
Cordier, M.P.4
Batta, A.K.5
Shefer, S.6
Honda, A.7
Honda, M.8
Xu, G.9
Irons, M.10
-
16
-
-
0030759323
-
Smith-Lemli-Opitz syndrome: Deficient 7-reductase activity in cultured skin fibroblasts and chorionic villus fibroblasts and its application to pre- and postnatal detection
-
Wanders, R.J.A., Romeijn, G.J., Wijburg, F., Hennekam, R.C.M., De Jong, J., Wevers, R.A., Dacremont, G. (1997). Smith-Lemli-Opitz syndrome: deficient 7-reductase activity in cultured skin fibroblasts and chorionic villus fibroblasts and its application to pre-and postnatal detection, J. Inher. Metab. Dis., 20, 432-436.
-
(1997)
J. Inher. Metab. Dis.
, vol.20
, pp. 432-436
-
-
Wanders, R.J.A.1
Romeijn, G.J.2
Wijburg, F.3
Hennekam, R.C.M.4
De Jong, J.5
Wevers, R.A.6
Dacremont, G.7
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